PubRank

M A Kroos

Author PubWeight™ 34.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J 1988 2.44
2 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J Med Genet 1995 1.81
3 Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999 1.76
4 Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation. J Biol Chem 1993 1.32
5 Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells. Biochem J 1990 1.24
6 Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. Biochem Biophys Res Commun 1994 1.17
7 Human lysosomal alpha-glucosidase. Characterization of the catalytic site. J Biol Chem 1991 1.15
8 Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 1998 1.14
9 The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. Hum Mol Genet 1994 1.14
10 Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet 1999 1.10
11 Glycogenosis type II (acid maltase deficiency). Muscle Nerve Suppl 1995 1.09
12 Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites. Biochem J 1993 1.05
13 Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J Med Genet 1996 1.01
14 Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice. J Clin Invest 1991 0.99
15 Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum Mol Genet 1998 0.96
16 Cotransfer of syntenic human genes into mouse cells using isolated metaphase chromosomes or cellular DNA. Hum Genet 1985 0.96
17 Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients. Exp Cell Res 1984 0.92
18 Cell-free translation of human lysosomal alpha-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II. Biochim Biophys Acta 1987 0.91
19 The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. Biochem J 1993 0.90
20 Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing. Biochem Biophys Res Commun 1997 0.89
21 Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann Neurol 1995 0.88
22 Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. Hum Mutat 1993 0.87
23 Endogenous type II cGMP-dependent protein kinase exists as a dimer in membranes and can Be functionally distinguished from the type I isoforms. J Biol Chem 1997 0.86
24 Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency. Community Genet 1999 0.86
25 Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. Biochem Biophys Res Commun 1991 0.84
26 Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities. J Neurol Sci 2008 0.84
27 Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates. J Inherit Metab Dis 2009 0.83
28 Adult and infantile glycogenosis type II in one family, explained by allelic diversity. Am J Hum Genet 1990 0.81
29 Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. Hum Mutat 1998 0.80
30 Expression of cDNA-encoded human acid alpha-glucosidase in milk of transgenic mice. Biochim Biophys Acta 1996 0.79
31 An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II. Ann Hum Genet 1989 0.78
32 Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis? Pediatr Res 1995 0.77
33 Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II. Pediatr Res 1990 0.77
34 Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II. Clin Genet 1996 0.77
35 Lysosomal storage diseases: cellular pathology, clinical and genetic heterogeneity, therapy. Ann Biol Clin (Paris) 1994 0.75
36 A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver. Histochem J 1995 0.75
37 Biochemical genetics of glycogenosis type II in Brahman cattle. Biochem Biophys Res Commun 1993 0.75
38 Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations. J Med Genet 2001 0.75